Some genetic disorders caused by mutations in genes encoding components of the
transcriptional machinery as well as proteins involved in epigenetic modification of the …

Neuromuscular disorders (NMD) are a heterogeneous group of genetic conditions, with
autosomal dominant, recessive, or X-linked inheritance. They are characterized by …

The Mediator is an evolutionarily conserved, multi-subunit complex that regulates multiple
steps of transcription. Mediator activity is regulated by the reversible association of a four …

A decade after the designation of MED13L as a gene and its link to intellectual disability (ID)
and dextro-looped transposition of great arteries in 2003, we previously described a …

Background: Congenital myopathy-13 (CMYP13), also known as Bailey-Bloch congenital
myopathy and Native American myopathy (NAM), is a condition caused by biallelic …

Background VCP (valosin-containing protein gene) variants have been associated with
peripheral and central neurodegenerative processes, including inclusion body myopathy …

The genetic basis of intellectual disability (ID) is extremely heterogeneous and relatively little
is known about the role of autosomal recessive traits. In a field study performed in a highly …

Transcription pause-release is an important, highly regulated step in the control of gene
expression. Modulated by various factors, it enables signal integration and fine-tuning of …

Intellectual disability (ID) is a clinically and genetically heterogeneous disorder, affecting 1%–
3% of the general population. The number of ID-causing genes is high. Many X-linked …

MED27 is a subunit of the Mediator multiprotein complex, which is involved in transcriptional
regulation. Biallelic MED27 variants have recently been suggested to be responsible for an …